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described as thick heart (hypertrophic cardiomyopathy), weak and dilated heart (dilated cardiomyopathy), stiff heart (restrictive cardiomyo- pathy) and inherited arrhythmogenic diseases. Tese clinical entities were predominantly recognised in young people whose clinical expression was directly linked to a genetic change and the dramatic complication of sudden death was considered the main manifestation. However, the understanding of the true prevalence of the inherited cardiac conditions, the clinical expression and the asso- ciated risks, as well as the knowledge about their optimal prevention and management, were limited. Te inherited cardiac conditions are


Understanding inherited cardiac conditions I


Heart conditions in the era of the genetic diagnosis and precision medicine


nherited conditions of the heart have been known about for many years. Tey were typically


Te inherited cardiac conditions are caused by a spelling mistake in the DNA and aren’t present in the heart from birth. More recently, the identification of genetic changes has taken major steps forward


caused by a spelling mistake in the DNA and aren’t present in the heart from birth. More recently, the identification of genetic changes has taken major steps forward. Tis is mainly attributable to the revolutionary advances in clin- ical and laboratory diagnostics. A new environment for the understanding and management of the inherited cardiac conditions has been created. Our current understanding is that


a genetic change may directly lead to a cardiac condition or may just predispose to one. Te DNA serves as a huge repository of information, but there’s variability between individ- uals with regard to how each piece of information will be processed in the body and in the heart. Tis often depends on other pieces of informa- tion and external factors. Terefore, the ‘journey’ from the genetic infor- mation to the clinical condition is long and multifactorial. Tis is one of the reasons why genetic testing, although very useful nowadays, is also very complex to interpret. What is accepted by all though, is that there’s a genetic involvement in a


significantly larger number of condi- tions than previously considered, so the spectrum of the inherited cardiac conditions is much broader than previously believed. Many factors influencing the clin-


ical expression of the genetic mistakes are increasingly recognised. Some of these factors can be ameliorated in the patient’s favour by medical inter- vention and other factors are relevant to the individual’s lifestyle. Te knowl- edge of how to modify these factors for the individual patient carrying a specific genetic change or changes is part of the delivery of precision medi- cine, prevention and personalised care which is the contemporary aim of the healthcare systems. Beyond the diagnosis in the affected


individual, genetic testing may be important for the family members and it can help to identify individ- uals who are at risk of developing a


cardiac condition. Additionally,


the genetic composition of an indi- vidual may determine the response to certain medicines and can enable disease-modifying treatments. At the clinical level, the progress


over the decade has focused on the recognition of the small details of the clinical expression of the cardiac


conditions and the accurate and early diagnosis. It’s understood that the clinical expression of the genetic changes contributing to cardiac conditions follow the patient in the long term as chronic, but not neces- sarily limiting or life-threatening conditions. Te precise recognition of the spectrum of these changes is key for the prevention and management of future complications. Te evolu- tion of cardiac imaging in the last decades has allowed us to recognise ultrastructural details of the heart cells, detect the development of scar tissue in the heart muscle, inflamma- tion and abnormal deposits within the heart muscle. Tese findings have led to the appropriate therapeutic intervention and contributed to the risk stratification of the patients and their relatives. Additionally, the study of the


exercise physiology in patients with inherited cardiac conditions can unveil a number of subtle abnormal- ities but its interpretation requires high level of skill. Similarly, ambu- latory cardiac monitoring devices have enabled us to detect rhythm disturbances and rhythm correction interventions dramatically improved the symptoms and the outcome of the patients. Te contemporary approach of


the inherited cardiac conditions needs to take into account all the aforementioned


developments in


genetics and cardiology in a holistic fashion. It needs to be able to cover the broad spectrum from birth to old age and from unaffected gene carriers who may be at risk in the future to severely affected patients who require major interventions. Terefore, care for inherited cardiac conditions is best offered when all the individual elements of the service are provided at a very high level. In the process of helping the specialist to compose an accurate clinical


electrocardiogram with a potentially life threatening arrhythmia MEET THE EXPERT


Te contemporary approach of the inherited cardiac conditions needs to take into account all the aforementioned developments in genetics and cardiology in a holistic fashion


picture, an individual or a patient may have to undergo a number of diagnostic tests, including genetic testing when indicated, will be asked to detail


the personal and family


medical history and will need to work together with the specialist in order to put all the information in the context of their previous and current lifestyles and future plans. Te good knowledge and the precise interpretation


of the signs and


symptoms of the inherited cardiac conditions will enable prevention, early diagnosis, planning of the patient’s life and management of the complications.


Contact Mrs Gaby Bryan E: g.bryan@rbht.nhs.uk


Dr Pantazis is based at the Royal Brompton & Harefield Hospital where a comprehensive service for the Inherited cardiac conditions is available, both on the NHS and privately. He’s also a clinician of International repute, participating and leading research and clinical education and guidelines.


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